Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CRB1	23418	broad.mit.edu	37	1	197404169	197404169	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:197404169C>A	ENST00000367397.1	+	5	2177	c.1319C>A	c.(1318-1320)aCa>aAa	p.T440K	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.T947K|CRB1_ENST00000367400.3_Missense_Mutation_p.T1059K|CRB1_ENST00000544212.1_Missense_Mutation_p.T540K|CRB1_ENST00000535699.1_Missense_Mutation_p.T1035K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1059					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GACAACGAAACACCTTTTGTG	0.458000													15	126					2.61681e-11	3.00381e-11	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13571744	13571744	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:13571744G>T	ENST00000040738.5	-	26	9182	c.9047C>A	c.(9046-9048)aCa>aAa	p.T3016K		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	3016							DNA binding										GGAGAGCTGTGTCTTTGATCT	0.478000													6	23					5.18039e-06	5.51898e-06	1	1	0
LETM1	3954	broad.mit.edu	37	4	1834493	1834493	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:1834493C>T	ENST00000302787.2	-	6	1354	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	353	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CTTTATGGAGCGCAGCCGCAT	0.567000													14	57					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685630	108685630	+	Silent	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr12:108685630G>A	ENST00000312143.7	-	3	1473	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	CMKLR1_ENST00000550402.1_Silent_p.T370T|CMKLR1_ENST00000397688.2_Silent_p.T368T|CMKLR1_ENST00000552995.1_Silent_p.T368T|CMKLR1_ENST00000412676.1_Silent_p.T370T	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	370					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AAAGCATGCCGGTCTCCCTCT	0.473000													47	84					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37263766	37263766	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:37263766A>G	ENST00000315392.4	-	6	816	c.605T>C	c.(604-606)gTg>gCg	p.V202A	PLXDC1_ENST00000394316.2_Missense_Mutation_p.V202A|PLXDC1_ENST00000444911.2_Missense_Mutation_p.V162A|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Missense_Mutation_p.V129A	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	202					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCACTGAACCACAAAGACTGT	0.582000													13	31					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186678685	186678685	+	Silent	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:186678685A>G	ENST00000343098.5	+	18	20508	c.20508A>G	c.(20506-20508)agA>agG	p.R6836R	FSIP2_ENST00000424728.1_Silent_p.R6747R	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATGTTAAAAGAGCTGTTGCTG	0.433000													41	64					0	0	1	0	0
LOC101927755	101927755	broad.mit.edu	37	17	58066651	58066651	+	RNA	SNP	C	C	T	rs144367363	by1000genomes	TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333000													4	30					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276381	186276381	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:186276381C>T	ENST00000445192.2	+	7	1575	c.1530C>T	c.(1528-1530)acC>acT	p.T510T	PRG4_ENST00000367486.3_Silent_p.T467T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T417T|PRG4_ENST00000367483.4_Silent_p.T469T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	510	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCACCAAGGAGC	0.637000													11	205					0	0	1	0	0
MKS1	54903	broad.mit.edu	37	17	56290379	56290379	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:56290379C>T	ENST00000393119.2	-	8	896	c.822G>A	c.(820-822)ccG>ccA	p.P274P	MKS1_ENST00000537529.2_Silent_p.P264P|MKS1_ENST00000546108.1_Silent_p.P71P|MKS1_ENST00000313863.6_Silent_p.P274P|MKS1_ENST00000337050.7_Silent_p.P274P	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	274					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCCTCCTCCGGCTGTGCGT	0.537000													28	75					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218411	208218411	+	Splice_Site	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:208218411C>A	ENST00000367033.3	-	19	4397		c.e19+1			NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2						axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCTCACTCACCATGACCTTG	0.577000													12	64					0.00010058	0.000104424	1	1	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123867	26123867	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr6:26123867G>C	ENST00000314332.5	-	1	271	c.266C>G	c.(265-267)aCc>aGc	p.T89S	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.T89S			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	89					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GGAGGTGATGGTCGAGCGCTT	0.607000													103	136					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480359	73480359	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:73480359G>T	ENST00000523207.1	+	2	978	c.390G>T	c.(388-390)gaG>gaT	p.E130D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	130					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGATTGATGAGATCTACTTGG	0.448000													67	72					9.5628e-27	1.13776e-26	1	1	0
NEK9	91754	broad.mit.edu	37	14	75553754	75553754	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:75553754C>T	ENST00000238616.5	-	21	2942	c.2784G>A	c.(2782-2784)caG>caA	p.Q928Q		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	928					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TGTTCAACTTCTGCAGTTGGG	0.413000													62	173					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93974414	93974414	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr6:93974414G>A	ENST00000369303.4	-	8	1824	c.1640C>T	c.(1639-1641)gCt>gTt	p.A547V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	547						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACTGGAGACAGCTGTAGCTGT	0.378000													8	68					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12322007	12322007	+	Silent	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:12322007G>A	ENST00000358136.3	+	13	1594	c.1464G>A	c.(1462-1464)acG>acA	p.T488T	VPS13D_ENST00000356315.4_Silent_p.T488T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	488					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTATGAACACGTATACAAAGC	0.423000													45	131					0	0	1	0	0
TMEM81	388730	broad.mit.edu	37	1	205053173	205053173	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:205053173G>T	ENST00000367167.3	-	1	472	c.276C>A	c.(274-276)ttC>ttA	p.F92L		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	92	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TGAGAATGGTGAAATGGAGCA	0.507000													16	60					5.03518e-11	5.7394e-11	1	1	0
DPRX	503834	broad.mit.edu	37	19	54140232	54140232	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:54140232G>T	ENST00000376650.1	+	3	617	c.566G>T	c.(565-567)cGa>cTa	p.R189L		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	189						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AACCAAAGTCGAGAGAGATGA	0.443000													23	140					1.9806e-07	2.15225e-07	1	1	0
RYR3	6263	broad.mit.edu	37	15	34118906	34118906	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr15:34118906G>A	ENST00000389232.4	+	84	11268	c.11198G>A	c.(11197-11199)cGt>cAt	p.R3733H	RYR3_ENST00000415757.3_Missense_Mutation_p.R3728H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3733					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGTTCACGCGTGATCTCTTT	0.423000													53	156					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	23					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154179150	154179150	+	Splice_Site	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:154179150G>T	ENST00000336314.4	+	9	1170		c.e9-1			NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1								protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCCCTTCAGGCCCTAAAGG	0.483000													16	82					5.01169e-05	5.23658e-05	1	1	0
C1orf112	55732	broad.mit.edu	37	1	169821028	169821028	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:169821028A>G	ENST00000286031.6	+	23	3015	c.2315A>G	c.(2314-2316)gAa>gGa	p.E772G	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.E772G	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	772										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTTTCTGGGAACCCTTTGCT	0.433000													6	78					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50049221	50049221	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:50049221A>G	ENST00000371564.3	-	9	2324	c.2105T>C	c.(2104-2106)cTg>cCg	p.L702P	NFATC2_ENST00000396009.3_Missense_Mutation_p.L702P|NFATC2_ENST00000414705.1_Missense_Mutation_p.L682P	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	702					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTGGCTCCCCAGGCCTCCATG	0.652000													16	67					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26348276	26348276	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr22:26348276G>A	ENST00000335473.7	+	38	6107	c.5857G>A	c.(5857-5859)Gag>Aag	p.E1953K	MYO18B_ENST00000407587.2_Missense_Mutation_p.E1954K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E1953K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1953	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GATGCGCATCGAGTACCTGGA	0.537000													8	14					0	0	1	0	0
CA7	766	broad.mit.edu	37	16	66887318	66887318	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:66887318G>A	ENST00000394069.3	+	7	975	c.544G>A	c.(544-546)Gat>Aat	p.D182N	RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000338437.2_Missense_Mutation_p.D238N	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	238					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CTCGGAGGACGATGAGAGGAT	0.592000													13	58					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424049	89424049	+	RNA	SNP	G	G	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:89424049G>C	ENST00000532352.1	+	0	1512							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTTTCTGTAGGAAACAAACA	0.318000													6	189					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109893592	109893592	+	Silent	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:109893592T>C	ENST00000256637.6	-	6	799	c.741A>G	c.(739-741)ggA>ggG	p.G247G	SORT1_ENST00000538502.1_Silent_p.G111G	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	247					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	p.G247G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CTTCCCATTTTCCCCCAAAAT	0.418000													7	232					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149514780	149514780	+	RNA	SNP	C	C	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr7:149514780C>G	ENST00000378016.2	+	0	11322							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCAGCCCCTCGGGCCTGGAG	0.652000													4	15					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441164	99441164	+	Silent	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:99441164G>A	ENST00000287042.4	+	2	1307	c.957G>A	c.(955-957)ggG>ggA	p.G319G	KCNS2_ENST00000521839.1_Silent_p.G319G	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	319						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GCTCCCTGGGGGCCACTTTGA	0.567000													40	40					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19560691	19560691	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:19560691C>T	ENST00000328041.6	+	4	593	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	132						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGACTTCTTCGTCCCTTCCT	0.502000													23	86					0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47266765	47266765	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr13:47266765G>T	ENST00000311191.6	+	8	1338	c.1109G>T	c.(1108-1110)aGc>aTc	p.S370I	LRCH1_ENST00000389797.3_Missense_Mutation_p.S370I|LRCH1_ENST00000389798.3_Missense_Mutation_p.S370I	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	370										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CATCGCCTTAGCCCCGTTAAA	0.408000													6	100					0.248553	0.248553	1	1	0
PRUNE	58497	broad.mit.edu	37	1	150997141	150997141	+	Silent	SNP	C	C	T	rs112180991	byFrequency	TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:150997141C>T	ENST00000271620.3	+	4	546	c.390C>T	c.(388-390)atC>atT	p.I130I	PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368936.1_5'UTR|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000271619.8_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	130						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATCGACCCATCGAGCCGAAAC	0.572000											OREG0013792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	122					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40819563	40819563	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr22:40819563T>C	ENST00000396617.3	-	9	1194	c.604A>G	c.(604-606)Aag>Gag	p.K202E	MKL1_ENST00000402042.1_Intron|MKL1_ENST00000407029.1_Missense_Mutation_p.K202E|MKL1_ENST00000355630.3_Missense_Mutation_p.K202E			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	202	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGGGTGGACTTGGCAGTGGGG	0.562000			T	RBM15	acute megakaryocytic leukemia								11	64					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65403111	65403111	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:65403111C>T	ENST00000355703.3	+	32	5835	c.5296C>T	c.(5296-5298)Cgc>Tgc	p.R1766C		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1766						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCAGGCGCTTCGCAACATGAT	0.677000													5	37					0	0	1	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271503	26271503	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr6:26271503T>A	ENST00000305910.3	-	1	109	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						ATGAGGTTTCTTCACGCCGCC	0.642000													28	97					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107719171	107719171	+	Silent	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:107719171A>G	ENST00000445937.1	+	9	1683	c.1422A>G	c.(1420-1422)gcA>gcG	p.A474A	OXR1_ENST00000312046.6_Silent_p.A467A|OXR1_ENST00000497705.1_Silent_p.A407A|OXR1_ENST00000442977.2_Silent_p.A475A|OXR1_ENST00000531443.1_Silent_p.A474A|OXR1_ENST00000517566.2_Silent_p.A474A|OXR1_ENST00000452423.2_5'UTR	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	475					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GGGAAACAGCAGAATTTAAAC	0.373000													10	44					0	0	1	0	0
EMC2	9694	broad.mit.edu	37	8	109491313	109491313	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:109491313G>T	ENST00000220853.3	+	10	816	c.781G>T	c.(781-783)Gct>Tct	p.A261S	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1			ER membrane protein complex subunit 2																		TAGTTGGGCAGCTAGTCAAAT	0.313000													4	63					0.184627	0.185767	1	1	0
KDM3A	55818	broad.mit.edu	37	2	86705091	86705091	+	Silent	SNP	T	T	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:86705091T>A	ENST00000409556.1	+	14	2396	c.2031T>A	c.(2029-2031)ccT>ccA	p.P677P	KDM3A_ENST00000542128.1_Silent_p.P625P|KDM3A_ENST00000409064.1_Silent_p.P677P|KDM3A_ENST00000312912.5_Silent_p.P677P			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	677					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GGGTGTGTCCTCGGTGTGGGT	0.507000													5	144					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784102	9784102	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:9784102G>T	ENST00000304374.2	+	1	845	c.449G>T	c.(448-450)cGc>cTc	p.R150L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	150					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CGCTACAAGCGCAAGATGACT	0.597000													10	19					2.17888e-05	2.29134e-05	1	1	0
SSTR1	6751	broad.mit.edu	37	14	38679209	38679209	+	Silent	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:38679209G>A	ENST00000267377.2	+	3	1232	c.615G>A	c.(613-615)acG>acA	p.T205T		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	205					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCGACGGCACGGTGGCTTGCA	0.622000													5	72					0	0	1	0	0
WNT6	7475	broad.mit.edu	37	2	219736219	219736219	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:219736219C>T	ENST00000233948.3	+	3	531	c.314C>T	c.(313-315)aCg>aTg	p.T105M	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	105					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTCGGGAGACGGCCTTCGTG	0.701000													17	56					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121228991	121228991	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr3:121228991G>C	ENST00000264233.5	-	11	1839	c.1711C>G	c.(1711-1713)Cag>Gag	p.Q571E		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	571					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGATTTCTCTGAATTCCTTGC	0.433000								DNA polymerases (catalytic subunits)					5	170					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42585743	42585743	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:42585743A>G	ENST00000289957.2	+	4	384	c.256A>G	c.(256-258)Aca>Gca	p.T86A		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	86					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCAGGAATGGACAGACCACAA	0.388000													12	34					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8172143	8172143	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:8172143C>T	ENST00000314666.6	+	27	3808	c.3675C>T	c.(3673-3675)gcC>gcT	p.A1225A	PFAS_ENST00000545834.1_Silent_p.A801A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1225	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGGAGGGCGCCGTGCTGCCCG	0.697000													17	81					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31364645	31364645	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:31364645G>A	ENST00000355683.5	-	16	2329	c.2114C>T	c.(2113-2115)gCt>gTt	p.A705V	STRN3_ENST00000357479.5_Missense_Mutation_p.A789V	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	789					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AAGAGCATCAGCTCCTGCACT	0.388000													12	66					0	0	1	0	0
MOB4	25843	broad.mit.edu	37	2	198400319	198400319	+	Silent	SNP	C	C	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:198400319C>G	ENST00000323303.4	+	3	444	c.189C>G	c.(187-189)ggC>ggG	p.G63G	MOB4_ENST00000233892.4_Silent_p.G31G|MOB4_ENST00000448447.2_Silent_p.G42G|MOB4_ENST00000497443.1_Intron|MOB4_ENST00000409916.1_5'UTR|MOB4_ENST00000409360.1_Silent_p.G31G|MOB4_ENST00000604458.1_Silent_p.G99G	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2			MOB family member 4, phocein																		CACCTGAAGGCCAAGATGAAG	0.313000													19	206					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107584853	107584853	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr9:107584853C>T	ENST00000374736.3	-	19	3146	c.2752G>A	c.(2752-2754)Ggc>Agc	p.G918S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	918	ABC transporter 1.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTGCCAGGCCATCGACAGCC	0.557000													20	101					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55964379	55964379	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:55964379G>A	ENST00000263923.4	-	17	2729	c.2434C>T	c.(2434-2436)Cca>Tca	p.P812S		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	812					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCATCCAATGGGAGTTCATCT	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			14	68					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525491	176525491	+	Silent	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:176525491G>T	ENST00000367662.3	+	2	1197	c.33G>T	c.(31-33)ctG>ctT	p.L11L	PAPPA2_ENST00000367661.3_Silent_p.L11L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	11					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAATAAGCCTGGCGATTTTGG	0.507000													32	138					9.65963e-10	1.07844e-09	1	1	0
GXYLT1	283464	broad.mit.edu	37	12	42491746	42491746	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr12:42491746T>A	ENST00000398675.3	-	6	1186	c.954A>T	c.(952-954)caA>caT	p.Q318H	GXYLT1_ENST00000280876.6_Missense_Mutation_p.Q287H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	318					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TCAATAGATCTTGATCACCCC	0.284000													23	143					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140652378	140652378	+	Silent	SNP	A	A	G	rs137852715		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr9:140652378A>G	ENST00000460843.1	+	9	1443	c.1416A>G	c.(1414-1416)gcA>gcG	p.A472A	EHMT1_ENST00000462484.1_Silent_p.A472A|EHMT1_ENST00000334856.6_Silent_p.A441A|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	472					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGCAGACGGCACCAGGAGACA	0.542000													63	71					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:186276229A>T	ENST00000445192.2	+	7	1423	c.1378A>T	c.(1378-1380)Aca>Tca	p.T460S	PRG4_ENST00000367486.3_Missense_Mutation_p.T417S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367S|PRG4_ENST00000367483.4_Missense_Mutation_p.T419S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657000													18	208					0	0	1	0	0
ITM2B	9445	broad.mit.edu	37	13	48832958	48832958	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr13:48832958A>G	ENST00000378565.5	+	5	793	c.590A>G	c.(589-591)tAt>tGt	p.Y197C	ITM2B_ENST00000378549.5_Missense_Mutation_p.Y91C	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	197	BRICHOS.				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CCTCAGTCCTATCTGATTCAT	0.368000													48	82					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23521230	23521230	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:23521230A>T	ENST00000296682.3	+	6	632	c.450A>T	c.(448-450)aaA>aaT	p.K150N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	150					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGGCTCAGAAACCAGTGTCCC	0.443000										HNSCC(3;0.000094)			20	62					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39311245	39311245	+	Missense_Mutation	SNP	G	G	A	rs149784324		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:39311245G>A	ENST00000263408.4	-	7	1200	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	369	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATACCTTTCCGCTTCATGGAA	0.368000													42	71					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100732424	100732424	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr7:100732424G>A	ENST00000306085.6	+	3	2128	c.1831G>A	c.(1831-1833)Gtg>Atg	p.V611M		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	611					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCGGGCCACGTGGAGGTGTA	0.701000													26	91					0	0	1	0	0
WDR44	54521	broad.mit.edu	37	X	117582899	117582899	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chrX:117582899C>T	ENST00000254029.3	+	20	3086	c.2691C>T	c.(2689-2691)gaC>gaT	p.D897D	WDR44_ENST00000371825.3_Silent_p.D889D|WDR44_ENST00000371822.5_Silent_p.D808D	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	897						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TCTCTGCTGACTTCACTGGAG	0.274000													27	19					0	0	1	0	0
SAC3D1	29901	broad.mit.edu	37	11	64812090	64812090	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:64812090G>A	ENST00000398846.1	+	2	1357	c.968G>A	c.(967-969)aGt>aAt	p.S323N	SAC3D1_ENST00000530213.1_3'UTR|SAC3D1_ENST00000531072.1_Missense_Mutation_p.S323N	NM_013299.3	NP_037431.3			SAC3 domain containing 1											endometrium(2)|lung(1)	3						CCGCCTGCCAGTACGTGCAAG	0.627000													35	46					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52689527	52689527	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr15:52689527G>T	ENST00000399231.3	-	10	1433	c.1190C>A	c.(1189-1191)aCa>aAa	p.T397K	MYO5A_ENST00000358212.6_Missense_Mutation_p.T397K|MYO5A_ENST00000356338.6_Missense_Mutation_p.T397K|MYO5A_ENST00000399233.2_Missense_Mutation_p.T397K|MYO5A_ENST00000553916.1_Missense_Mutation_p.T397K	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	397	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCGGGCATTTGTGGCCTGCAG	0.502000													16	63					4.7546e-09	5.23649e-09	1	1	0
ALK	238	broad.mit.edu	37	2	29606678	29606678	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:29606678C>A	ENST00000389048.3	-	5	2108	c.1202G>T	c.(1201-1203)cGa>cTa	p.R401L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	401	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R401Q(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CAGGGCCACTCGAAATGGGTT	0.488000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				16	78					1.37285e-15	1.59839e-15	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66356365	66356365	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:66356365T>G	ENST00000273854.3	-	5	1732	c.1132A>C	c.(1132-1134)Att>Ctt	p.I378L	EPHA5_ENST00000354839.4_Missense_Mutation_p.I378L|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.I378L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	378	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GCAGGCGGAATCCATTCCAGA	0.448000										TSP Lung(17;0.13)			11	39					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162304	90162304	+	RNA	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:90162304A>G	ENST00000567960.1	+	0	1040				TUBB8P7_ENST00000564451.1_RNA																							CTGGCTCCCCAACAACGTAAA	0.502000													5	305					0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27062254	27062254	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr21:27062254C>T	ENST00000480456.1	+	3	760	c.210C>T	c.(208-210)gtC>gtT	p.V70V	JAM2_ENST00000312957.5_Silent_p.V70V|JAM2_ENST00000400532.1_Silent_p.V70V|JAM2_ENST00000425221.2_Intron	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	70	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GTCGGAGTGTCTCCTTTGTCT	0.428000													28	113					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101325759	101325759	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:101325759C>G	ENST00000344327.3	-	11	2982	c.2558G>C	c.(2557-2559)aGa>aCa	p.R853T	TRPC6_ENST00000348423.4_Missense_Mutation_p.R737T|TRPC6_ENST00000532133.1_Missense_Mutation_p.R775T|TRPC6_ENST00000360497.4_Missense_Mutation_p.R798T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	853					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTGATATTGTCTTGGAGGATT	0.299000													52	336					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218412	208218412	+	Splice_Site	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:208218412C>A	ENST00000367033.3	-	19	4396	c.3639_splice	c.e19+1	p.M1213_splice		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1213	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCTCACTCACCATGACCTTGT	0.572000													13	65					0.000151284	0.000156072	1	1	0
MED31	51003	broad.mit.edu	37	17	6547860	6547860	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:6547860T>C	ENST00000225728.3	-	4	428	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	MED31_ENST00000575197.1_3'UTR|TXNDC17_ENST00000250101.5_3'UTR|MED31_ENST00000574128.1_Missense_Mutation_p.Y34C	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			cervix(1)|endometrium(1)|large_intestine(1)	3						CTTCCGGGAATAGTGCTGCCA	0.453000													29	168					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													7	200					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162298	90162298	+	RNA	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:90162298C>T	ENST00000567960.1	+	0	1034				TUBB8P7_ENST00000564451.1_RNA																							TGCTGACTGGCTCCCCAACAA	0.502000													6	299					0	0	1	0	0
DHRS4L2	317749	broad.mit.edu	37	14	24470637	24470637	+	Silent	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:24470637C>A	ENST00000335125.6	+	6	702	c.576C>A	c.(574-576)ctC>ctA	p.L192L	DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000382755.4_Silent_p.L190L|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000537912.1_Silent_p.L117L|DHRS4L2_ENST00000558753.1_Silent_p.L117L|DHRS4L2_ENST00000545240.1_Intron	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	130							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TGCTGGGCCTCAACAATACCC	0.488000													61	158					7.82978e-24	9.18169e-24	1	1	0
TTN	7273	broad.mit.edu	37	2	179432224	179432224	+	Missense_Mutation	SNP	C	C	A	rs11685237		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:179432224C>A	ENST00000589042.1	-	326	78859	c.78635G>T	c.(78634-78636)aGa>aTa	p.R26212I	TTN_ENST00000460472.2_Missense_Mutation_p.R17147I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17272I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17339I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24571I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23644I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24571	Fibronectin type-III 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCTCAAGTCTGAATGTTTC	0.408000													51	46					1.61004e-24	1.90171e-24	1	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52744251	52744251	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:52744251A>T	ENST00000287727.3	+	9	3006	c.2834A>T	c.(2833-2835)aAt>aTt	p.N945I	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.N945I|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.N886I	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	945					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTTGTTTTAAATGCAAATTTG	0.328000													12	74					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71568843	71568843	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:71568843C>T	ENST00000304743.2	+	31	6172	c.5726C>T	c.(5725-5727)tCc>tTc	p.S1909F	PCNX_ENST00000238570.5_Missense_Mutation_p.S1837F|PCNX_ENST00000439984.3_Missense_Mutation_p.S1798F|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1909						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AACTCTCCCTCCTTGCTTGCT	0.478000													46	129					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	868980	868980	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:868980G>C	ENST00000381922.3	-	3	670	c.568C>G	c.(568-570)Cag>Gag	p.Q190E	ANGPT4_ENST00000546022.1_Missense_Mutation_p.Q190E	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	190					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CCCTGAAGCTGCTGGAGCTTC	0.582000													6	75					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36982441	36982441	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr6:36982441C>A	ENST00000274963.8	+	7	1014	c.843C>A	c.(841-843)ttC>ttA	p.F281L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	281	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACATGATCTTCTCAGCTGCCC	0.597000													23	54					1.66031e-10	1.86641e-10	1	1	0
FAT3	120114	broad.mit.edu	37	11	92600283	92600283	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:92600283C>T	ENST00000298047.6	+	21	12052	c.12035C>T	c.(12034-12036)aCg>aTg	p.T4012M	FAT3_ENST00000409404.2_Missense_Mutation_p.T4012M|FAT3_ENST00000533797.1_Missense_Mutation_p.T347M|FAT3_ENST00000525166.1_Missense_Mutation_p.T3862M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4012	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGGCCTGACGGAGCTGAAG	0.657000										TCGA Ovarian(4;0.039)			4	26					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18885219	18885219	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr10:18885219G>C	ENST00000377304.4	-	7	1113	c.695C>G	c.(694-696)cCt>cGt	p.P232R		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	232							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TCCAGGTTGAGGATTTAGTAC	0.383000													33	66					0	0	1	0	0
ARL1	400	broad.mit.edu	37	12	101790181	101790181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr12:101790181C>A	ENST00000261636.8	-	5	685	c.511G>T	c.(511-513)Gaa>Taa	p.E171*	ARL1_ENST00000551688.1_Nonsense_Mutation_p.E42*|ARL1_ENST00000551828.1_Nonsense_Mutation_p.E154*|ARL1_ENST00000551671.1_Nonsense_Mutation_p.E171*|ARL1_ENST00000539055.1_Nonsense_Mutation_p.E125*|ARL1_ENST00000536227.1_Nonsense_Mutation_p.E154*	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	171					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		ACTTGCCATTCCATTGCCTCA	0.473000													33	158					1.45844e-13	1.68599e-13	1	1	0
KCND2	3751	broad.mit.edu	37	7	119914694	119914694	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr7:119914694C>T	ENST00000331113.4	+	1	973	c.8C>T	c.(7-9)gCg>gTg	p.A3V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	3	Interaction with KCNIP2.				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ATCATGGCGGCGGGGGTGGCA	0.607000													73	220					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49084844	49084844	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr13:49084844C>T	ENST00000344532.3	-	10	1270	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	RCBTB2_ENST00000430805.2_Missense_Mutation_p.A288T|RCBTB2_ENST00000544904.1_Intron|RCBTB2_ENST00000544492.1_Intron	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	283							Ran guanyl-nucleotide exchange factor activity	p.A283T(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TAAGAATTGGCGCCCCAAGCA	0.473000													4	121					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124096419	124096419	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:124096419A>T	ENST00000287380.1	+	4	448	c.358A>T	c.(358-360)Agc>Tgc	p.S120C	TBC1D31_ENST00000378080.2_Missense_Mutation_p.S15C|TBC1D31_ENST00000521676.1_Missense_Mutation_p.S15C|TBC1D31_ENST00000327098.5_Missense_Mutation_p.S120C|TBC1D31_ENST00000309336.3_Missense_Mutation_p.S120C|TBC1D31_ENST00000522420.1_Missense_Mutation_p.S15C	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		GGAGCTAGTTAGCTGGATGAG	0.383000													32	205					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11687618	11687618	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:11687618G>A	ENST00000262442.3	+	41	7891	c.7821_splice	c.e41-1	p.R2608_splice	DNAH9_ENST00000454412.2_Splice_Site_p.R2608_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2608	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTGTACAGCGTCACTTCAGC	0.488000													49	240					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113242564	113242564	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:113242564G>A	ENST00000369644.1	+	20	3619	c.2590G>A	c.(2590-2592)Ggg>Agg	p.G864R	MOV10_ENST00000369645.1_Missense_Mutation_p.G920R|MOV10_ENST00000357443.2_Missense_Mutation_p.G920R|MOV10_ENST00000413052.2_Missense_Mutation_p.G920R|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	920					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CATCATCGTGGGGAACCCCCT	0.597000													25	132					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6977756	6977756	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr18:6977756C>G	ENST00000389658.3	-	44	6408	c.6315G>C	c.(6313-6315)ttG>ttC	p.L2105F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2105	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGGCTGATCAACAGTTTAA	0.483000													16	78					0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90472926	90472926	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:90472926G>A	ENST00000340281.4	+	5	375	c.232G>A	c.(232-234)Gac>Aac	p.D78N	ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.2_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	78	Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TGAGTCTTACGACTCCAGGTC	0.423000													4	139					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244715797	244715797	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:244715797G>A	ENST00000366534.4	+	9	764	c.710G>A	c.(709-711)aGt>aAt	p.S237N	C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366531.3_Missense_Mutation_p.S86N|C1orf101_ENST00000366533.4_Missense_Mutation_p.S237N	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	237						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			CCACGTGGTAGTCAATTAATG	0.403000													25	213					0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213068366	213068366	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:213068366A>G	ENST00000366971.4	+	9	1762	c.1564A>G	c.(1564-1566)Ata>Gta	p.I522V	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	522					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CAACATAAATATAGGAATTAC	0.279000													44	232					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50048821	50048821	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:50048821C>T	ENST00000371564.3	-	9	2724	c.2505G>A	c.(2503-2505)gaG>gaA	p.E835E	NFATC2_ENST00000396009.3_Silent_p.E835E|NFATC2_ENST00000414705.1_Silent_p.E815E	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	835					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTGCGAAATTCTCGCAGTACA	0.617000													6	125					0	0	1	0	0
FABP1	2168	broad.mit.edu	37	2	88425818	88425818	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:88425818C>T	ENST00000393750.3	-	2	148	c.117G>A	c.(115-117)tcG>tcA	p.S39S	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Silent_p.S39S			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	39					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GCACGATTTCCGACACCCCCT	0.527000													49	219					0	0	1	0	0
YWHAZ	7534	broad.mit.edu	37	8	101936267	101936267	+	Silent	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:101936267T>C	ENST00000395957.2	-	6	935	c.594A>G	c.(592-594)gaA>gaG	p.E198E	YWHAZ_ENST00000522542.1_Silent_p.E123E|YWHAZ_ENST00000395958.2_Silent_p.E198E|YWHAZ_ENST00000353245.3_Silent_p.E198E|YWHAZ_ENST00000395951.3_Silent_p.E198E|YWHAZ_ENST00000395948.2_Silent_p.E121E|YWHAZ_ENST00000419477.2_Silent_p.E198E|YWHAZ_ENST00000395956.3_Silent_p.E198E|YWHAZ_ENST00000457309.1_Silent_p.E198E|YWHAZ_ENST00000395953.2_Silent_p.E198E|YWHAZ_ENST00000522819.1_Silent_p.E78E|YWHAZ_ENST00000521309.1_Silent_p.E78E			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	198					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	CAGCAATGGCTTCATCAAAAG	0.333000													28	181					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187986	152187986	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:152187986G>A	ENST00000368801.2	-	3	6194	c.6119C>T	c.(6118-6120)tCc>tTc	p.S2040F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2040					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGTGGCTGGAAGACTGACC	0.587000													91	651					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234388	21234388	+	Silent	SNP	A	A	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:21234388A>C	ENST00000233242.1	-	26	5479	c.5352T>G	c.(5350-5352)gtT>gtG	p.V1784V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1784					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTGTAAATTAACAGTTTGCT	0.393000													27	145					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													5	126					0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13192670	13192670	+	Splice_Site	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:13192670G>T	ENST00000358552.3	+	6	1128		c.e6+1		NFIX_ENST00000588228.1_Splice_Site|NFIX_ENST00000587760.1_Splice_Site|NFIX_ENST00000587260.1_Splice_Site|NFIX_ENST00000360105.4_Splice_Site|NFIX_ENST00000592199.1_Splice_Site|NFIX_ENST00000397661.2_Splice_Site|NFIX_ENST00000585575.1_Splice_Site			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)						DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CACCGGACAGGTGAGTCCAGA	0.632000											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	44					0.000442599	0.000453734	1	1	0
NFATC2	4773	broad.mit.edu	37	20	50048638	50048638	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr20:50048638C>T	ENST00000371564.3	-	9	2907	c.2688G>A	c.(2686-2688)caG>caA	p.Q896Q	NFATC2_ENST00000396009.3_Silent_p.Q896Q|NFATC2_ENST00000414705.1_Silent_p.Q876Q	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	896					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGTTCTGCTCCTGTTTAATGG	0.522000													17	252					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17199409	17199409	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr21:17199409T>C	ENST00000285681.2	+	14	1949	c.1580T>C	c.(1579-1581)aTa>aCa	p.I527T	USP25_ENST00000400183.2_Missense_Mutation_p.I527T|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.I527T			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	527					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CAGTCCCGGATACCTCCAGAT	0.473000													6	91					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229637795	229637795	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:229637795C>A	ENST00000261396.3	-	3	447	c.356G>T	c.(355-357)tGc>tTc	p.C119F	NUP133_ENST00000537506.1_Missense_Mutation_p.C103F|NUP133_ENST00000366679.1_Missense_Mutation_p.C119F|NUP133_ENST00000366678.3_Missense_Mutation_p.C119F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	119					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTCTCTTTGCACACCAGACA	0.398000													100	110					1.62402e-62	1.96086e-62	1	1	0
BMP1	649	broad.mit.edu	37	8	22066962	22066962	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:22066962C>T	ENST00000306385.5	+	19	3250	c.2580C>T	c.(2578-2580)tgC>tgT	p.C860C	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	860	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTACAGAGTGCGGGGGCCAGG	0.637000													4	101					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	174951994	174951994	+	Splice_Site	SNP	G	G	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr3:174951994G>C	ENST00000454872.1	+	3	947	c.819_splice	c.e3+1	p.K273_splice	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	273					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAACTCTCAAGGTAATATGAC	0.388000													9	75					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538471	1538471	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:1538471A>G	ENST00000263071.4	-	11	2123	c.2074T>C	c.(2074-2076)Tac>Cac	p.Y692H	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.Y606H	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	692	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCAGCATGTAGATCGTGGTC	0.647000													13	74					0	0	1	0	0
TSTD2	158427	broad.mit.edu	37	9	100380037	100380037	+	Splice_Site	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr9:100380037A>G	ENST00000341170.4	-	4	986		c.e4+1		TSTD2_ENST00000375172.2_Splice_Site|TSTD2_ENST00000484708.1_Splice_Site|TSTD2_ENST00000375165.1_Splice_Site|TSTD2_ENST00000375163.1_Splice_Site|TSTD2_ENST00000354801.2_Splice_Site	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2											large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGAAGGTGTTACCTTGCCTGT	0.488000													3	48					0	0	1	0	0
PRM2	5620	broad.mit.edu	37	16	11370095	11370095	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:11370095C>T	ENST00000435245.2	-	1	242	c.133G>A	c.(133-135)Gag>Aag	p.E45K	RMI2_ENST00000572173.1_Intron|PRM2_ENST00000241808.4_Missense_Mutation_p.E45K			P04554	PRM2_HUMAN	protamine 2	45					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						TGGGTCCTCTCGTAGACCTCG	0.627000													58	111					0	0	1	0	0
KCNJ13	3769	broad.mit.edu	37	2	233635903	233635903	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:233635903A>G	ENST00000233826.3	-	2	309	c.170T>C	c.(169-171)aTg>aCg	p.M57T	GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.M57T|KCNJ13_ENST00000409779.1_Missense_Mutation_p.M57T	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	57						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		AAAGACCAACATCATCCAACG	0.473000													15	38					0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4836918	4836918	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:4836918C>T	ENST00000329125.5	+	2	1094	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	340										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CAAATGCCCTCCTCCTTGCAT	0.507000													62	106					0	0	1	0	0
GPR37L1	9283	broad.mit.edu	37	1	202092323	202092323	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:202092323C>G	ENST00000367282.4	+	1	338	c.232C>G	c.(232-234)Cca>Gca	p.P78A		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	78						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TGGCCTGCAGCCAACCAAGCC	0.662000													4	35					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31477790	31477790	+	Silent	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:31477790G>A	ENST00000408912.3	+	8	2990	c.2673G>A	c.(2671-2673)tcG>tcA	p.S891S	ARMC5_ENST00000412665.2_Silent_p.S440S|ARMC5_ENST00000563544.1_Silent_p.S796S|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000268314.4_Silent_p.S796S|ARMC5_ENST00000538189.1_Silent_p.S828S			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	796							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAGGTCTGTCGCCTGGTGCAG	0.687000													19	42					0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226342369	226342369	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:226342369C>A	ENST00000366812.5	-	6	1123	c.1069G>T	c.(1069-1071)Gcc>Tcc	p.A357S	RP11-275I14.4_ENST00000440540.1_RNA|ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	357					steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TTCTCCAGGGCTTCTTCTGCA	0.413000													87	93					4.69036e-40	5.62153e-40	1	1	0
PDZRN4	29951	broad.mit.edu	37	12	41966931	41966931	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr12:41966931G>A	ENST00000298919.7	+	10	1958	c.1570G>A	c.(1570-1572)Gga>Aga	p.G524R	PDZRN4_ENST00000539469.2_Missense_Mutation_p.G526R|PDZRN4_ENST00000402685.2_Missense_Mutation_p.G784R			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	784							ubiquitin-protein ligase activity|zinc ion binding	p.G526R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTCCTCTTCCGGACAGAGCAG	0.512000													30	114					0	0	1	0	0
GSTM1	2944	broad.mit.edu	37	1	110231856	110231856	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:110231856C>G	ENST00000309851.5	+	5	323	c.269C>G	c.(268-270)aCa>aGa	p.T90R	GSTM1_ENST00000349334.3_Missense_Mutation_p.T90R|GSTM1_ENST00000490021.2_3'UTR|GSTM1_ENST00000369819.2_Missense_Mutation_p.T90R|GSTM1_ENST00000483399.2_Missense_Mutation_p.Q63E|GSTM2_ENST00000460717.3_Intron|GSTM1_ENST00000369823.2_Missense_Mutation_p.T109R|GSTM2_ENST00000369831.2_Intron	NM_000561.3	NP_000552.2	P09488	GSTM1_HUMAN	glutathione S-transferase mu 1	90	GST C-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GGTGGGGAGACAGAAGAGGAG	0.532000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				3	40					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35647965	35647965	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:35647965G>A	ENST00000287272.2	+	16	2559	c.2539G>A	c.(2539-2541)Gac>Aac	p.D847N	UNC5D_ENST00000416672.1_Missense_Mutation_p.D921N|UNC5D_ENST00000453357.2_Missense_Mutation_p.D911N|UNC5D_ENST00000404895.2_Missense_Mutation_p.D916N|UNC5D_ENST00000420357.1_Missense_Mutation_p.D849N|UNC5D_ENST00000449677.1_Missense_Mutation_p.D492N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	916					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGGTGATCTTGACTCCCTGGC	0.468000													5	88					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76335360	76335360	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:76335360A>G	ENST00000312916.7	+	5	1068	c.686A>G	c.(685-687)aAt>aGt	p.N229S		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	229					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TCAAAGGAAAATCAACTCTAT	0.294000													11	51					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94134200	94134200	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:94134200C>T	ENST00000243673.2	-	1	385	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	GPR83_ENST00000539203.2_Missense_Mutation_p.A72T	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	72						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGAGCAGGGCTTTCACCGTG	0.537000													11	77					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233058	21233058	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:21233058C>T	ENST00000233242.1	-	26	6809	c.6682G>A	c.(6682-6684)Gat>Aat	p.D2228N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2228					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAATGTAGATCATGGATTGTT	0.279000													7	98					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27642470	27642470	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:27642470G>A	ENST00000261588.4	+	5	414	c.395G>A	c.(394-396)cGa>cAa	p.R132Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	132										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTCCAGCGCCGAGGATGGCAC	0.517000													4	7					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													6	41					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5769095	5769095	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr7:5769095C>T	ENST00000425013.2	-	7	1410	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	RNF216_ENST00000389902.3_Missense_Mutation_p.E453K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	396					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.E453*(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CCTTTGAGCTCGTGCAGGGCC	0.512000													16	122					0	0	1	0	0
MFSD10	10227	broad.mit.edu	37	4	2933350	2933350	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:2933350T>A	ENST00000329687.4	-	8	1489	c.955A>T	c.(955-957)Atg>Ttg	p.M319L	MFSD10_ENST00000355443.4_Missense_Mutation_p.M319L|MFSD10_ENST00000514800.1_Missense_Mutation_p.M319L|MFSD10_ENST00000508221.1_Missense_Mutation_p.M319L|MFSD10_ENST00000507555.1_Intron	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	319					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ATGGTGGCCATGGTGAGGCCG	0.682000													10	22					0	0	1	0	0
NSMCE4A	54780	broad.mit.edu	37	10	123722762	123722762	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr10:123722762G>A	ENST00000538652.1	-	6	995	c.358C>T	c.(358-360)Cga>Tga	p.R120*	NSMCE4A_ENST00000489266.1_5'UTR|NSMCE4A_ENST00000369017.5_Nonsense_Mutation_p.R279*|NSMCE4A_ENST00000369023.3_Nonsense_Mutation_p.R279*			Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	279										breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				CGATCTTCTCGAAAATATGTC	0.333000													19	58					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063373	76063373	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:76063373T>A	ENST00000260045.3	-	5	926	c.821A>T	c.(820-822)gAg>gTg	p.E274V		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	274					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AGGTAGGTGCTCTTCCCCTGC	0.438000													42	57					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207450	58207450	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:58207450A>C	ENST00000302572.2	-	1	196	c.175T>G	c.(175-177)Ttc>Gtc	p.F59V		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGAGGAAGAAGTACATGGGG	0.463000													11	69					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101325814	101325814	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:101325814G>T	ENST00000344327.3	-	11	2927	c.2503C>A	c.(2503-2505)Cca>Aca	p.P835T	TRPC6_ENST00000348423.4_Missense_Mutation_p.P719T|TRPC6_ENST00000532133.1_Missense_Mutation_p.P757T|TRPC6_ENST00000360497.4_Missense_Mutation_p.P780T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	835					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTTATACTTGGTTGTTTATTG	0.294000													11	395					0.000673444	0.00068181	1	1	0
MARS	4141	broad.mit.edu	37	12	57908984	57908984	+	Silent	SNP	C	C	G			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr12:57908984C>G	ENST00000262027.5	+	18	2390	c.2256C>G	c.(2254-2256)ctC>ctG	p.L752L	MARS_ENST00000315473.5_Silent_p.L518L	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	752					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGCCTTGCTCTCTGTCATGC	0.547000													10	79					0	0	1	0	0
TRMT2B	79979	broad.mit.edu	37	X	100265668	100265668	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chrX:100265668T>C	ENST00000338687.7	-	13	2087	c.1282A>G	c.(1282-1284)Aag>Gag	p.K428E	TRMT2B_ENST00000372939.1_Missense_Mutation_p.K428E|TRMT2B_ENST00000545398.1_Missense_Mutation_p.K473E|TRMT2B_ENST00000372936.3_Missense_Mutation_p.K473E|TRMT2B_ENST00000372935.1_Missense_Mutation_p.K473E			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	473							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CCTAAGAGCTTCTTAGCAGGG	0.488000													24	27					0	0	1	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131772963	131772963	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr9:131772963C>A	ENST00000372564.3	-	7	779	c.634G>T	c.(634-636)Gat>Tat	p.D212Y	SH3GLB2_ENST00000417224.1_Missense_Mutation_p.D212Y|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.D216Y|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.D212Y|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.D191Y	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	212	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						TCCACTTCATCATTCCAGAGC	0.637000													22	16					4.72057e-08	5.16412e-08	1	1	0
USP34	9736	broad.mit.edu	37	2	61575227	61575227	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:61575227C>A	ENST00000398571.2	-	15	2139	c.2063G>T	c.(2062-2064)cGa>cTa	p.R688L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	688					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CATTCGCATTCGATTATCTAC	0.458000													5	144					1.23904e-05	1.31145e-05	1	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105386929	105386929	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr10:105386929T>A	ENST00000369774.4	-	9	911	c.635A>T	c.(634-636)cAg>cTg	p.Q212L	SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.Q74L|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.Q79L|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.Q47L|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.Q212L|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	212	SH3 1.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GACCCAGCCCTGCTCCTCAGA	0.612000													22	62					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36051824	36051824	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:36051824G>T	ENST00000262623.3	-	5	459	c.431C>A	c.(430-432)gCa>gAa	p.A144E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	144					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GAGAGCGATTGCCAGGTACAG	0.577000													17	85					0.000566183	0.000576799	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37442528	37442528	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr10:37442528A>T	ENST00000374660.1	+	13	1667	c.1568A>T	c.(1567-1569)gAt>gTt	p.D523V	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D523V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D523V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	579						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCACAGAAGGATGTGTGTTTA	0.294000													16	226					0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113608317	113608317	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:113608317T>C	ENST00000200135.3	-	14	2137	c.1993A>G	c.(1993-1995)Att>Gtt	p.I665V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	665					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		ATTTTGCCAATGACCTCAGAA	0.428000													38	102					0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34190056	34190056	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:34190056C>T	ENST00000311880.2	-	8	847	c.699G>A	c.(697-699)gaG>gaA	p.E233E	C17orf66_ENST00000592980.1_Silent_p.E193E	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	233							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCGTCAAAGTCTCCATCCTTT	0.512000													15	81					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55396782	55396782	+	Missense_Mutation	SNP	G	G	A	rs140716224		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:55396782G>A	ENST00000355524.3	+	3	216	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	FCAR_ENST00000345937.4_Missense_Mutation_p.R69Q|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Missense_Mutation_p.R69Q|FCAR_ENST00000469767.1_Missense_Mutation_p.R69Q|FCAR_ENST00000391724.3_Missense_Mutation_p.R57Q|FCAR_ENST00000391726.3_Missense_Mutation_p.R57Q|FCAR_ENST00000359272.4_Missense_Mutation_p.R57Q|FCAR_ENST00000391723.3_Missense_Mutation_p.R57Q|FCAR_ENST00000353758.4_Intron	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	69	Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCCACGTACCGAGAGATAGGC	0.478000													38	55					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140802964	140802964	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:140802964C>T	ENST00000398587.2	+	1	2203	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATAAGTCACGCCTGCTGCA	0.592000													13	60					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70989667	70989667	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:70989667G>A	ENST00000256389.3	-	2	2202	c.1958C>T	c.(1957-1959)cCt>cTt	p.P653L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	603	EGF-like.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P653H(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ACCAATATCAGGTATAGCCAT	0.458000													56	158					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127013761	127013761	+	Silent	SNP	T	T	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr7:127013761T>C	ENST00000393313.1	-	5	2220	c.1629A>G	c.(1627-1629)aaA>aaG	p.K543K	ZNF800_ENST00000393312.1_Silent_p.K543K|ZNF800_ENST00000265827.3_Silent_p.K543K			Q2TB10	ZN800_HUMAN	zinc finger protein 800	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GAGATGACTTTTTATGAACCA	0.343000													21	135					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96706960	96706960	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:96706960C>T	ENST00000542454.2	+	3	3302	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	BDKRB2_ENST00000306005.3_Silent_p.L99L|BDKRB2_ENST00000539359.1_Silent_p.L72L|BDKRB2_ENST00000554311.1_Silent_p.L99L|RP11-404P21.8_ENST00000553811.1_Intron			P30411	BKRB2_HUMAN	bradykinin receptor B2	99					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CCTGGGGAACCTGGCCGCAGC	0.612000													23	181					0	0	1	0	0
BIRC2	329	broad.mit.edu	37	11	102220696	102220696	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:102220696A>C	ENST00000227758.2	+	2	1510	c.111A>C	c.(109-111)caA>caC	p.Q37H	BIRC2_ENST00000532672.1_Missense_Mutation_p.Q16H|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Intron	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	37					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GCAACAAACAAAAAATGAAGT	0.438000													1934	103					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176533	57176533	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:57176533C>A	ENST00000537055.2	-	2	265	c.34G>T	c.(34-36)Gca>Tca	p.A12S		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TCCAACTCTGCGCCCTGGAGG	0.552000													29	37					2.70662e-09	3.00122e-09	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22902018	22902018	+	Silent	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr18:22902018C>T	ENST00000361524.3	-	3	322	c.174G>A	c.(172-174)tcG>tcA	p.S58S	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.S58S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	58					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TATCGCTCAGCGATTCAAACA	0.433000			T	PAX5	ALL								4	86					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73061279	73061279	+	RNA	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chrX:73061279C>T	ENST00000429829.1	-	0	11309					NR_001564.2																						GGGCAAACTGCTCCCTGAGCT	0.403000													16	36					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413127	105413127	+	Silent	SNP	G	G	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:105413127G>A	ENST00000333244.5	-	7	8780	c.8661C>T	c.(8659-8661)ccC>ccT	p.P2887P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2887						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGGCTCCCTCGGGAACGTGGC	0.622000													12	489					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51584858	51584858	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr10:51584858T>A	ENST00000452682.1	+	9	1257	c.1005T>A	c.(1003-1005)aaT>aaA	p.N335K	NCOA4_ENST00000414907.2_Missense_Mutation_p.N153K|NCOA4_ENST00000430396.2_Missense_Mutation_p.N219K|NCOA4_ENST00000374082.1_Missense_Mutation_p.N319K|NCOA4_ENST00000374087.4_Missense_Mutation_p.N319K|NCOA4_ENST00000443446.1_Missense_Mutation_p.N319K|NCOA4_ENST00000344348.6_Missense_Mutation_p.N319K|NCOA4_ENST00000438493.1_Missense_Mutation_p.N335K	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	319					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AGCCTGAGAATGGCAGTCGTG	0.458000			T	RET	papillary thyroid								21	101					0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61249854	61249854	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr11:61249854G>C	ENST00000338608.2	+	3	306	c.181G>C	c.(181-183)Gtc>Ctc	p.V61L	PPP1R32_ENST00000432063.2_Missense_Mutation_p.V61L|RP11-286N22.8_ENST00000543044.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	61																	CCAGCCCGTGGTCTCATGCCA	0.617000											OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	59					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50904500	50904500	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr22:50904500C>T	ENST00000380817.2	-	9	1084	c.901G>A	c.(901-903)Gat>Aat	p.D301N	SBF1_ENST00000390679.3_Missense_Mutation_p.D301N|SBF1_ENST00000348911.6_Missense_Mutation_p.D302N	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	301	DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACAATCACATCGAGCTGCGGA	0.607000													46	68					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16464515	16464515	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:16464515delC	ENST00000358432.5	-	5	1299	c.1145delG	c.(1144-1146)atfs	p.S382fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	382	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GTAGCGCACACTGGCCTCACA	0.662													13	21	---	---	---	---					
LOC101927209	101927209	broad.mit.edu	37	1	142712908	142712909	+	RNA	INS	-	-	T			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr1:142712908_142712909insT	ENST00000369381.2	-	0	1645																											AGAACCAAATGTTTAAATTTTC	0.272													2	4	---	---	---	---					
FOXD4L1	200350	broad.mit.edu	37	2	114257058	114257059	+	In_Frame_Ins	INS	-	-	GGC			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr2:114257058_114257059insGGC	ENST00000306507.5	+	1	398_399	c.225_226insGGC	c.(223-228)gagcgg>gaGGCgcgg	p.75_76ER>EAR		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	75					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G76C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						AGCACATCGAGGGCGGCGGCCC	0.708													4	8	---	---	---	---					
LINC01378	103689918	broad.mit.edu	37	4	118497180	118497180	+	RNA	DEL	C	C	-			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:118497180delC	ENST00000422145.3	+	0	159				NT5C3AP1_ENST00000441170.1_RNA																							GCCAGCACCACCCCCGCCACC	0.622													8	19	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs67907220		TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)del	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761													5	9	---	---	---	---					
FAXDC2	10826	broad.mit.edu	37	5	154200942	154200942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr5:154200942delG	ENST00000326080.5	-	8	1146	c.723delC	c.(721-723)ggfs	p.G241fs	FAXDC2_ENST00000517938.1_Frame_Shift_Del_p.G218fs	NM_032385.3	NP_115761.2			fatty acid hydroxylase domain containing 2																		ACAAGTGGGAGCCCATTACTA	0.542													12	32	---	---	---	---					
FAM86B2	653333	broad.mit.edu	37	8	12285143	12285143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr8:12285143delC	ENST00000393715.3	-	3	465	c.231delG	c.(229-231)ggfs	p.G77fs	FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000262365.4_Intron			P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	0										endometrium(1)|kidney(2)	3						ACCATGTAGGCCCGGGTGGGC	0.617													15	38	---	---	---	---					
RGS3	5998	broad.mit.edu	37	9	116247956	116247957	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr9:116247956_116247957insA	ENST00000374140.2	+	8	881_882	c.672_673insA	c.(670-675)aagggcfs	p.KG224fs	RGS3_ENST00000317613.6_Frame_Shift_Ins_p.KG112fs|RGS3_ENST00000350696.5_Frame_Shift_Ins_p.KG224fs	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	224	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGTGTGGAACAGGGCCAGCCA	0.579													2	4	---	---	---	---					
IGHG2	3501	broad.mit.edu	37	14	106111063	106111074	+	RNA	DEL	GTGCTCTCGGAG	GTGCTCTCGGAG	-	rs139093355	by1000genomes	TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr14:106111063_106111074delGTGCTCTCGGAG	ENST00000390545.2	-	0	53_64																											CAGGGCCGCTGTGCTCTCGGAGGTGCTCCTGG	0.675													8	71	---	---	---	---					
CTCF	10664	broad.mit.edu	37	16	67645338	67645339	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr16:67645338_67645339insA	ENST00000264010.4	+	3	1047_1048	c.603_604insA	c.(601-606)gcaaaafs	p.AK201fs	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	201					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCACCAGCCAAAAAAACAAA	0.475													31	69	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056586	56056587	+	In_Frame_Ins	INS	-	-	TGT			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr17:56056586_56056587insTGT	ENST00000584396.1	-	5	1125_1126	c.1037_1038insACA	c.(1036-1038)cgt>cACAgt	p.346_346R>HS	VEZF1_ENST00000581208.1_In_Frame_Ins_p.355_355R>HS			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	355	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGCTTGTCACAtgttgttgttg	0.475													8	529	---	---	---	---					
APOC1P1	342	broad.mit.edu	37	19	45431267	45431268	+	RNA	INS	-	-	A			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr19:45431267_45431268insA	ENST00000574565.1	+	0	402					NR_028412.1																						TGAACAGATTGAAAAAAAAAAC	0.525													2	4	---	---	---	---					
KCNJ6	3763	broad.mit.edu	37	21	39086937	39086937	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A7JD-01A-11D-A34J-08	TCGA-UF-A7JD-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4ff49e-cf7c-4c15-99f3-7eb8bb32581c	99e39b23-db19-445d-948f-8105acdda658	g.chr21:39086937delA	ENST00000400482.3	-	3	1112	c.523delT	c.(523-525)ctfs	p.S175fs	KCNJ6_ENST00000288309.6_Frame_Shift_Del_p.S175fs	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	175					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCCAACACAGATTGGATTAAG	0.433													14	95	---	---	---	---					
